The NEMO Center in Milan, Neurorehabilitation Unit, ASST Niguarda Hospital, University of Milan, Milan, Italy.
Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Eur J Neurol. 2021 Feb;28(2):602-608. doi: 10.1111/ene.14567. Epub 2020 Oct 31.
Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry.
We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type.
The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05).
Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.
随着nusinersen 的商业化，许多未在三级保健中心定期随访或未登记在任何疾病登记处的成年脊髓性肌萎缩症（SMA）患者有了新的就诊机会。
我们比较了定期随访患者和新就诊患者的人口统计学和疾病特征，包括运动和呼吸功能评估，并根据 SMA 类型对新就诊患者进行了细分。
该队列包括 166 名成年患者（平均年龄：37.09 岁）：1 型 1 例，2 型 65 例，3 型 99 例，4 型 1 例。其中 166 例为新就诊患者。新就诊患者与定期随访患者在年龄和疾病持续时间方面无显著差异。在整个队列以及 2 型和 3 型患者中，定期随访患者的 Hammersmith 功能运动量表扩展和修订上肢模块评分均高于新就诊患者。两组患者的通气状态（p = 0.013）和 Cobb 角 >50°（p = 0.039）也存在差异。两组患者脊柱侧弯手术发生率无差异（p > 0.05）。
我们的结果显示了两个亚组之间的差异，尽管在 3 型患者中差异较小。在 2 型患者中，更严重疾病谱的新就诊患者比例更高。在新就诊患者中，只有约三分之一开始接受治疗，而定期随访患者中这一比例为 51%。确定未登记在疾病登记处的患者有助于重新定义 SMA 的总体患病率和不同表型的发生。
